Amyotrophic Lateral Sclerosis 1

Preferred Label : Amyotrophic Lateral Sclerosis 1;

NCIt synonyms : ALS1;

NCIt definition : An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase.;

Details

Origin ID

C168749;

UMLS CUI

C1862939;

Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis 1 [OMIM Phenotype]
- Amyotrophic lateral sclerosis 1 [MeSH concept]
- Amyotrophic lateral sclerosis type 1 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 1 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 1 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic lateral sclerosis 1 [OMIM Phenotype]
- Amyotrophic lateral sclerosis 1 [MeSH concept]
- Amyotrophic lateral sclerosis type 1 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 1 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 1 [DO Concept]
Validated automatic mappings to NTBT
- Familial amyotrophic lateral sclerosis [MedDRA Preferred Term]
- familial amyotrophic lateral sclerosis [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SOD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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